Canonical Allele Identifier: CA2636451511
Gene: MYO15A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18124558_18124559del , CM000679.2:g.18124558_18124559del GRCh38
NC_000017.10:g.18027872_18027873del , CM000679.1:g.18027872_18027873del GRCh37
NC_000017.9:g.17968597_17968598del NCBI36
NG_011634.1:g.20853_20854del
NG_011634.2:g.20853_20854del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.3685_3686del MANE Select ENSP00000495481.1:p.Gln1229AlafsTer16
ENST00000651088.1:c.226_227del ENSP00000498988.1:p.Gln76AlafsTer?
ENST00000205890.9:c.3685_3686del ENSP00000205890.5:p.Gln1229AlafsTer16
ENST00000583079.1:n.5391_5392del
ENST00000615845.4:c.3685_3686del ENSP00000481642.1:p.Gln1229AlafsTer16
NM_016239.3:c.3685_3686del NP_057323.3:p.Gln1229AlafsTer16
XM_011523917.1:c.3685_3686del XP_011522219.1:p.Gln1229AlafsTer16
XM_011523918.1:c.3685_3686del XP_011522220.1:p.Gln1229AlafsTer16
XM_011523919.1:c.3685_3686del XP_011522221.1:p.Gln1229AlafsTer16
XM_011523920.1:c.3685_3686del XP_011522222.1:p.Gln1229AlafsTer16
XM_011523921.1:c.3685_3686del XP_011522223.1:p.Gln1229AlafsTer16
XR_934037.1:n.4344_4345del
XR_934038.1:n.4344_4345del
XR_934039.1:n.4344_4345del
XM_011523918.2:c.3685_3686del XP_011522220.1:p.Gln1229AlafsTer16
XM_017024714.2:c.3685_3686del XP_016880203.1:p.Gln1229AlafsTer16
XM_017024715.2:c.3685_3686del XP_016880204.1:p.Gln1229AlafsTer16
XM_024450780.1:c.3685_3686del XP_024306548.1:p.Gln1229AlafsTer16
XM_024450781.1:c.3685_3686del XP_024306549.1:p.Gln1229AlafsTer16
XM_024450782.1:c.3685_3686del XP_024306550.1:p.Gln1229AlafsTer16
XR_934039.2:n.4383_4384del
NM_016239.4:c.3685_3686del MANE Select NP_057323.3:p.Gln1229AlafsTer16